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Sbdstm3.1Jrom
Targeted Allele Detail
Summary
Symbol: Sbdstm3.1Jrom
Name: SBDS ribosome maturation factor; targeted mutation 3.1, Johanna M Rommens
MGI ID: MGI:5446043
Gene: Sbds  Location: Chr5:130274573-130284371 bp, - strand  Genetic Position: Chr5, 68.97 cM
Alliance: Sbdstm3.1Jrom page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:189357
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsA loxP was inserted in intron 1 and a second loxP followed by an FRT flanked selection cassette were inserted in intron 2. The selection cassette was subsequently removed using flp recombinase. (J:189357)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Sbds Mutation:  31 strains or lines available
References
Original:  J:189357 Tourlakis ME, et al., Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. Gastroenterology. 2012 Aug;143(2):481-92
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory